Publications by authors named "Jonathan Pini"

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Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma

Ann Clin Transl Neurol· October 2025

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Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Angela Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Eleonora Torchia, Jonathan Pini

Eur J Hum Genet· August 2025

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Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data.
Abderhmane Slioui, Giulia Tammam, Fiammetta Vanoli, Adela Della Marina, Stanislav Vohanka, Jonathan Pini

Orphanet J Rare Dis· March 2025

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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung

EMBO Mol Med· July 2022

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Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Marilyn Gros, Andreia M Nunes, Douglas Daoudlarian, Jonathan Pini, Emanuela Martinuzzi

J Neuromuscul Dis· February 2022

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E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
Jonathan Pini, Gabriele Siciliano, Pauline Lahaut, Serge Braun, Sandrine Segovia-Kueny

J Neuromuscul Dis· December 2021

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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung

EMBO Mol Med· October 2020

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Osteogenic and Chondrogenic Master Genes Expression Is Dependent on the Kir2.1 Potassium Channel Through the Bone Morphogenetic Protein Pathway.
Jonathan Pini, Serena Giuliano, Julia Matonti, Lila Gannoun, Dina Simkin

J Bone Miner Res· October 2018

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Immunosuppressive Mesenchymal Stromal Cells Derived from Human-Induced Pluripotent Stem Cells Induce Human Regulatory T Cells and .
Clémence Roux, Gaëlle Saviane, Jonathan Pini, Nourhène Belaïd, Gihen Dhib

Front Immunol· January 2018

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NKp46+ Innate Lymphoid Cells Dampen Vaginal CD8 T Cell Responses following Local Immunization with a Cholera Toxin-Based Vaccine.
Carmelo Luci, Selma Bekri, Franck Bihl, Jonathan Pini, Pierre Bourdely

PLoS One· June 2016

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Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.
Jonathan Pini, Matthieu Rouleau, Claude Desnuelle, Sabrina Sacconi, Saïd Bendahhou

Stem Cells Dev· January 2016

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